Canonical Allele Identifier: CA360930294

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1018247
• ClinVar RCV Id: RCV001317517 ; RCV003478774
• dbSNP Id: rs1750385905
• gnomAD v4: 5-132575799-G-C
• MyVariant Identifiers: chr5:g.131911491G>C (hg19) ; chr5:g.132575799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575799G>C , CM000667.2:g.132575799G>C	GRCh38
NC_000005.9:g.131911491G>C , CM000667.1:g.131911491G>C	GRCh37
NC_000005.8:g.131939390G>C	NCBI36
NG_021151.1:g.23876G>C
NG_021151.2:g.23823G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.236G>C MANE Select	ENSP00000368100.4:p.Arg79Thr
ENST00000638452.2:c.-62G>C	ENSP00000492349.2:n.-62G>C
ENST00000638504.1:n.313G>C
ENST00000638568.2:c.-62G>C	ENSP00000491158.2:n.-62G>C
ENST00000639899.1:n.396G>C
ENST00000640655.2:c.-62G>C	ENSP00000491596.2:n.-62G>C
ENST00000651160.1:c.236G>C	ENSP00000498829.1:p.Arg79Thr
ENST00000651541.1:c.-62G>C	ENSP00000498795.1:n.-62G>C
ENST00000651658.1:n.304G>C
ENST00000651723.1:c.*384G>C	ENSP00000498237.1:n.*384G>C
ENST00000652016.1:c.236G>C	ENSP00000498267.1:p.Arg79Thr
ENST00000652485.1:c.236G>C	ENSP00000498973.1:p.Arg79Thr
ENST00000378823.7:c.236G>C	ENSP00000368100.4:p.Arg79Thr
ENST00000416135.5:c.-62G>C	ENSP00000389515.1:n.-62G>C
ENST00000423956.5:c.236G>C	ENSP00000390971.1:p.Arg79Thr
ENST00000453394.5:c.236G>C	ENSP00000400049.1:p.Arg79Thr
ENST00000533482.5:c.236G>C	ENSP00000431225.1:p.Arg79Thr
NM_005732.3:c.236G>C	NP_005723.2:p.Arg79Thr
NM_005732.4:c.236G>C MANE Select	NP_005723.2:p.Arg79Thr